PRPF19
pre-mRNA processing factor 19
Summary
Enables identical protein binding activity and ubiquitin-ubiquitin ligase activity. Involved in several processes, including DNA damage checkpoint signaling; mRNA splicing, via spliceosome; and protein K63-linked ubiquitination. Acts upstream of or within protein polyubiquitination. Located in cytoplasm; nuclear lumen; and site of double-strand break. Part of Prp19 complex and U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2134854268 | 11:60,658,658 | G/A | — | uncertain significance |
| rs2496180527 | 11:60,658,669 | A/G | — | uncertain significance |
| rs759650877 | 11:60,665,354 | T/A | — | uncertain significance |
| rs187723610 | 11:60,666,340 | C/T | — | uncertain significance |
| rs756238453 | 11:60,666,644 | G/C | — | uncertain significance |
| rs137995824 | 11:60,666,686 | T/C | — | uncertain significance |
| rs149479095 | 11:60,666,730 | G/A | — | uncertain significance |
| rs765274141 | 11:60,666,773 | G/C | — | uncertain significance |
| rs190381999 | 11:60,667,314 | G/C | regulatory region variant | — |
| rs2134863208 | 11:60,668,088 | T/C | — | uncertain significance |
| rs368154972 | 11:60,668,337 | T/C | — | uncertain significance |
| rs535292064 | 11:60,668,792 | T/C | — | uncertain significance |
| rs145371269 | 11:60,668,930 | C/A | intron variant | — |
| rs746512844 | 11:60,670,281 | G/T | — | uncertain significance |
| rs2496195756 | 11:60,670,302 | G/C | — | uncertain significance |
| rs765095108 | 11:60,671,193 | C/T | — | uncertain significance |
| rs1856011053 | 11:60,671,196 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.